P231: The yield of genetic testing in the context of joint hypermobility and aortopathy

Genetics in Medicine Open 2026 Open access

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Authors: Nina Powell-Hamilton, Lindsey Xu, Bela Ram, Marisa Gilstrop Thompson, Chelsea Kois, Shannon N. Nees
DOI: 10.1016/j.gimo.2026.103725
Cited by: 0

Abstract

Joint hypermobility (JHM), describes an increased range of motion beyond expected. Generalized joint hypermobility (GJH) describes individuals with a Beighton score of >5 for biologically mature adolescents and adults 4 for those >50 years. It was suggested that a Beighton Score of >6/9 best defines GJH in preadolescence, but requires reassessment later in life. JHM is a common and relatively benign population variant, however, there are also associated diagnoses which may pose a risk for life threatening comorbidities including aortopathy.

Fields of Study & Subjects

Connective tissue disorders research Genomics and Rare Diseases Dermatological and Skeletal Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103725–103725
Publication date
1 January 2026
Language
EN